{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T04:10:16Z","timestamp":1758946216858,"version":"3.44.0"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["#32293204","#82373505","#82173447","#32270748","#31900496"],"award-info":[{"award-number":["#32293204","#82373505","#82173447","#32270748","#31900496"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>The diagnostic approaches for Hermansky\u2010Pudlak Syndrome (HPS) include genetic sequencing, immunoblotting, electron microscopy (EM), and flow cytometry with mepacrine staining. However, these methods are often impractical for routine clinical use due to high cost, technical complexity, and limited availability. In this study, we evaluated dense granules (DGs) function in HPS mouse models using flow cytometry with mepacrine and FluoZin\u20103 staining. We then developed a standardized, practical flow cytometry\u2010based protocol and validated it in patients with HPS and oculocutaneous albinism (OCA), which were confirmed by whole\u2010mount EM. In HPS mouse models (BLOC\u20101, BLOC\u20102, BLOC\u20103, and AP\u20103 deficient mutants), mepacrine uptake was consistently reduced. FluoZin\u20103 fluorescence showed subtype\u2010specific zinc dysregulation, with elevated levels in BLOC\u20101, BLOC\u20102, and AP\u20103 mutants but decreased levels in the BLOC\u20103 mutant. In contrast, the OCA\u20106 mouse mutant showed no significant changes in either mepacrine or FluoZin\u20103 uptake. Similar patterns were observed in HPS and non\u2010syndromic OCA patients. Our findings indicate that the protocol can enable the precise diagnosis and preliminary subtype classification of HPS, while also facilitating differential diagnosis between HPS and OCA. This method offers a rapid, clinically accessible alternative to conventional diagnostic techniques and may also be applicable to other storage pool disorders with DG defects.<\/jats:p>","DOI":"10.1111\/pcmr.70048","type":"journal-article","created":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T04:38:33Z","timestamp":1757133513000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rapid Diagnosis and Subtyping of Hermansky\u2010Pudlak Syndrome With Flow Cytometry Analysis"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3772-9068","authenticated-orcid":false,"given":"Yingzi","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital, Capital Medical University  Beijing 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